Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001202391 | SCV001373501 | pathogenic | Primary ciliary dyskinesia | 2019-06-18 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 9 of the DNAH11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another DNAH11 variant in an individual affected with primary ciliary dyskinesia (Invitae). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002480660 | SCV002802337 | likely pathogenic | Primary ciliary dyskinesia 7 | 2021-10-15 | criteria provided, single submitter | clinical testing |